Variant report

Variant	rs34548271
Chromosome Location	chr14:71284038-71284039
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71278979..71281546-chr14:71282988..71284915,2	MCF-7	breast:
2	chr14:71278240..71280155-chr14:71283242..71284807,2	MCF-7	breast:
3	chr14:71282463..71285169-chr14:71374308..71376107,2	MCF-7	breast:
4	chr14:71274346..71277930-chr14:71282688..71286374,5	MCF-7	breast:
5	chr14:71283754..71285089-chr14:71421790..71423652,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100731	Chromatin interaction
ENSG00000259153	Chromatin interaction
ENSG00000006432	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11158881	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11621236	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11622788	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11623147	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11844844	0.83[ASN][1000 genomes]
rs12437247	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12897139	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17108537	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17108539	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17108555	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1859464	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34509410	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67164415	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71425385	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs731571	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71277200-71288000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr14:71277200-71288400	Weak transcription	Pancreas	Pancrea
3	chr14:71277800-71284200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:71277800-71288000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:71278000-71284200	Weak transcription	Hela-S3	cervix
6	chr14:71278200-71284200	Weak transcription	Dnd41	blood
7	chr14:71279400-71286200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:71279400-71288000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:71279600-71284200	Weak transcription	Brain Anterior Caudate	brain
10	chr14:71280200-71287800	Weak transcription	NHEK	skin
11	chr14:71280600-71284200	Weak transcription	Fetal Brain Female	brain
12	chr14:71281400-71284400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:71282000-71284200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr14:71282000-71284400	Weak transcription	Fetal Brain Male	brain
15	chr14:71282800-71288400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:71283000-71284200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:71283200-71284200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr14:71283400-71284600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr14:71283400-71284800	Enhancers	A549	lung
20	chr14:71283400-71285000	Enhancers	Fetal Intestine Small	intestine
21	chr14:71283600-71284400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:71283800-71284400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:71283800-71284600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr14:71283800-71284600	Active TSS	Brain Substantia Nigra	brain
25	chr14:71283800-71284800	Enhancers	Brain Hippocampus Middle	brain
26	chr14:71283800-71285000	Enhancers	HepG2	liver
27	chr14:71284000-71284200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:71284000-71284200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:71284000-71284200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:71284000-71284200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr14:71284000-71284200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr14:71284000-71284200	Enhancers	Ovary	ovary
33	chr14:71284000-71284200	Enhancers	Small Intestine	intestine
34	chr14:71284000-71284400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:71284000-71284400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:71284000-71284400	Active TSS	Liver	Liver
37	chr14:71284000-71284400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr14:71284000-71284400	Enhancers	Placenta	Placenta
39	chr14:71284000-71284400	Enhancers	Lung	lung
40	chr14:71284000-71284400	Enhancers	Psoas Muscle	Psoas
41	chr14:71284000-71284400	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr14:71284000-71284400	Weak transcription	HMEC	breast
43	chr14:71284000-71284600	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr14:71284000-71284600	Active TSS	Stomach Smooth Muscle	stomach
45	chr14:71284000-71284800	Enhancers	Primary T cells fromperipheralblood	blood
46	chr14:71284000-71284800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:71284000-71284800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:71284000-71284800	Weak transcription	Fetal Heart	heart
49	chr14:71284000-71285000	Enhancers	GM12878-XiMat	blood

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